Progressive pseudorheumatoid dysplasia
ORPHA:1159DiseaseAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)45
Очень частый (80–99%)7
HP:0000926Platyspondyly
HP:0001386Joint swelling
HP:0002515Waddling gait
HP:0002655Spondyloepiphyseal dysplasia
HP:0003301Irregular vertebral endplates
HP:0004267Narrow small joints of the hand
HP:0005195Polyarticular arthropathy
Частый (30–79%)18
HP:0001225Wrist swelling
HP:0001324Muscle weakness
HP:0001376Limitation of joint mobility
HP:0001384Abnormality of the hip joint
HP:0002650Scoliosis
HP:0002815Abnormality of the knee
HP:0002829Arthralgia
HP:0003388Easy fatigability
HP:0003423Thoracolumbar kyphoscoliosis
HP:0004322Short stature
HP:0004582Irregularity of vertebral bodies
HP:0004603Hyperconvex vertebral body endplates
HP:0006256Abnormality of hand joint mobility
HP:0008422Vertebral wedging
HP:0009473Joint contracture of the hand
HP:0009811Abnormality of the elbow
HP:0011406Infancy onset short-trunk short stature
HP:0012385Camptodactyly
Периодический (5–29%)17
HP:0000464Abnormality of the neck
HP:0002812Coxa vara
HP:0002857Genu valgum
HP:0002867Abnormality of the ilium
HP:0002970Genu varum
HP:0003043Abnormality of the shoulder
HP:0003307Hyperlordosis
HP:0003370Flat capital femoral epiphysis
HP:0003371Enlargement of the proximal femoral epiphysis
HP:0004568Beaking of vertebral bodies
HP:0006247Enlarged interphalangeal joints
HP:0006429Broad femoral neck
HP:0008833Irregular acetabular roof
HP:0010580Enlarged epiphyses
HP:0025477Periarticular calcification
HP:0040160Generalized osteoporosis
HP:0100864Short femoral neck
Исключён (0%)3
HP:0002923Rheumatoid factor positive
HP:0025021Abnormal erythrocyte sedimentation rate
HP:0032436Abnormal C-reactive protein level
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)